1. A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia
- Author
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Yi Zhan, Shuaihantian Luo, Zixin Pi, and Guiying Zhang
- Subjects
Hidrotic ectodermal dysplasia ,Gene mutations ,Sequence analysis ,GJB6 ,Genetics ,QH426-470 - Abstract
Abstract Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 protein, have been found to cause HED in different populations. Here, we reported a big Chinese family in which 24 patients over five generations were suffered with HED. Sequence analysis identified all 24 patients carry a recurrent missense mutation c.263C > T (p.A88V) in GJB6. Our results reveal gene testing of GJB6 is important for diagnosis, prenatal diagnosis and future gene treatment of HED.
- Published
- 2020
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